Familial Renal Carcinoma

Familial renal carcinoma is the occurrence of renal cell carcinoma in two or more individuals in the same family with no evidence of any other hereditary kidney cancer syndrome, i.e. no mutation in any gene known to predispose to RCC. There is also a type of familial renal carcinoma which is associated only with clear cell RCC, called familial clear cell renal cell cancer.

Signs and symptoms:

  • An increased risk of renal carcinoma, which may be multifocal and bilateral.
  • RCC may metastasise.
  • More than one family member with RCC.

Diagnosis

  • The associated gene(s) have not yet been identified. It is very important to find an expert in familial renal cancers if you suspect you may have this condition.
  • The physical symptoms may mimic one of the known syndromes but gene tests of all possible candidate genes do not show any of the known mutations. No genetic test is available.

Links

Understandably, it can be frustrating to receive a diagnosis which seems to be vague and uncertain. Individuals with familial renal oncocytoma and familial renal carcinoma can appear like they have BHD syndrome and we have been hearing from a few who seem to have the clinical manifestations of BHD, but who do not have a mutation in the BHD gene (known as Folliculin). In the Personal Stories section, you can read Barbara’s story, an example of this situation.

It is also possible that you may have a mutation which is undetectable by current technology. In BHD for example, it is thought that around 5% of Folliculin mutations go undetected. Individuals with these mutations are diagnosed clinically, on the basis of their symptoms.

 

 

Publication date: September 2012
Review date: September 2015